E59Q (p.Glu59Gln) variant of TNNT2 (Troponin T, cardiac muscle)
E59Q (p.Glu59Gln) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and published literature.
E59Q (p.Glu59Gln) variant details
- p.Glu59Gln
- rs568628521
- ClinVar RCV004595276
- 1000Genomes rs568628521
- ExAC rs568628521
- Uncertain significance
- Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.07
- MetaLR 0.93
- MetaSVM 0.99
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)